Canonical Allele Identifier: CA483373317

Gene: B3GLCT

Linked Data

• MyVariant Identifiers: chr13:g.31891724G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.31317587G>A , CM000675.2:g.31317587G>A	GRCh38
NC_000013.10:g.31891724G>A , CM000675.1:g.31891724G>A	GRCh37
NC_000013.9:g.30789724G>A	NCBI36
NG_011732.1:g.122613G>A
NG_011732.2:g.122613G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343307.5:c.1086G>A MANE Select	ENSP00000343002.4:p.Leu362=
ENST00000343307.4:c.1086G>A	ENSP00000343002.4:p.Leu362=
NM_194318.3:c.1086G>A	NP_919299.3:p.Leu362=
XM_006719768.2:c.1029G>A	XP_006719831.1:p.Leu343=
XM_011534936.1:c.1065-6164G>A	XP_011533238.1:n.1065-6164G>A
XM_011534937.1:c.966G>A	XP_011533239.1:p.Leu322=
XM_011534938.1:c.939G>A	XP_011533240.1:p.Leu313=
XR_941500.1:n.1271G>A
XR_941501.1:n.1151G>A
XM_006719768.3:c.1029G>A	XP_006719831.1:p.Leu343=
XM_011534938.2:c.939G>A	XP_011533240.1:p.Leu313=
XM_017020395.1:c.939G>A	XP_016875884.1:p.Leu313=
NM_194318.4:c.1086G>A MANE Select	NP_919299.3:p.Leu362=